Canonical Allele Identifier: CA1099869468
Gene:

Linked Data

gnomAD v3: 7-30911441-GA-G
gnomAD v4: 7-30911441-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911442del , CM000669.2:g.30911442del GRCh38
NC_000007.13:g.30951057del , CM000669.1:g.30951057del GRCh37
NC_000007.12:g.30917582del NCBI36
NG_007475.2:g.63049del

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-551del
Search 100 bp 5'
Search 100 bp 3'